OBO ID: DOID:0080672
Term Name: fibrochondrogenesis 1 Search Ontology:
Synonyms:
Definition: A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. https://pubmed.ncbi.nlm.nih.gov/21035103/
References:
Ontology: Human Disease   (DOID:0080672)
OTHER fibrochondrogenesis 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL11A1 Fibrochondrogenesis 1 228520
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None